05/23/2026
A cautionary tale about a patient who was misdiagnosed…
“Ten years ago today — May 21, 2016 — my son Julian graduated from Ravenwood High School. He wasn't sick yet. He was healthy, hopeful, and had his whole life ahead of him.
Within a year, he would have his first psychiatric admission at Vanderbilt University Medical Center.
He wasn't schizophrenic. He had Wilson's disease — a genetic copper metabolism disorder that is treatable when caught.
And he didn't just possibly have it. He met the formal diagnostic criteria.
The Leipzig Scoring System is the internationally recognized standard for diagnosing Wilson's disease. A score of 4 or higher means a diagnosis is warranted. Julian scored 5 to 6 — across multiple independent data sources — including:
• A pathogenic ATP7B mutation confirmed by Invitae genetic testing
• Elevated urine copper — documented in his own medical records, then mischaracterized as normal by his VUMC care team
• Elevated liver biopsy copper — a direct tissue-level finding of copper accumulation in his liver
• Neurological signs including speech response latency documented at his very first psychiatric admission
• MRI findings that a movement disorder specialist described in writing as "very abnormal" — the same imaging VUMC formally read as negative
• An autopsy showing a liver weighing 1,810 grams and a spleen weighing 320 grams — the hepatosplenomegaly of advanced, untreated copper toxicity
The diagnosis was there. The evidence was there. The score was there.
Instead of testing for the medical causes of psychosis, VUMC labeled Julian schizophrenic. He was treated with antipsychotics for years. And when he didn't respond the way a schizophrenic patient should, they didn't look harder for the real cause. They escalated.
Julian underwent more than 80 electroconvulsive therapy treatments.
Eighty times, his brain was seized electrically — while the copper destroying his neurological system went unidentified and untreated. Wilson's disease was progressing. No one was looking for it.
Julian died in a horrific manner on February 26, 2025. He was 26 years old.
When our family began asking hard questions — presenting the genetic evidence, the lab values, the liver biopsy, the autopsy findings, the imaging, and the Leipzig score — VUMC's response was to hire outside defense counsel: Anderson & Reynolds PLC.
They hired lawyers. They did not call us.
Wilson's disease is diagnosed with a blood test, a urine test, and a slit-lamp eye exam. It is treated with copper chelation. People live full, normal lives when it is caught.
Julian deserved a diagnosis. He deserved treatment. He deserved to live.
I am sharing this because what happened to Julian can happen to other families. Psychiatric symptoms — especially in young people — can have treatable metabolic and genetic causes. Those causes must be ruled out before a lifetime diagnosis is applied, and certainly before a patient undergoes dozens of ECT treatments.
If you know someone who received a psychiatric diagnosis young and has not been worked up for Wilson's disease, please share this post.
Julian Porter. Ravenwood Class of 2016. Gone too soon, but not forgotten — and not in silence.
”